Canonical Allele Identifier: CA394564051

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330200
• gnomAD v4: 16-3736814-A-G
• MyVariant Identifiers: chr16:g.3786815A>G (hg19) ; chr16:g.3736814A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736814A>G , CM000678.2:g.3736814A>G	GRCh38
NC_000016.9:g.3786815A>G , CM000678.1:g.3786815A>G	GRCh37
NC_000016.8:g.3726816A>G	NCBI36
NG_009873.1:g.148307T>C
NG_009873.2:g.148900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4396T>C MANE Select	ENSP00000262367.5:p.Tyr1466His
ENST00000262367.9:c.4396T>C	ENSP00000262367.5:p.Tyr1466His
ENST00000382070.7:c.4282T>C	ENSP00000371502.3:p.Tyr1428His
ENST00000570939.2:c.3031T>C	ENSP00000461002.2:p.Tyr1011His
ENST00000571763.5:n.186T>C
ENST00000574740.1:n.217T>C
ENST00000576720.1:n.3219T>C
NM_001079846.1:c.4282T>C	NP_001073315.1:p.Tyr1428His
NM_004380.2:c.4396T>C	NP_004371.2:p.Tyr1466His
XM_005255124.3:c.4351T>C	XP_005255181.1:p.Tyr1451His
XM_005255125.3:c.3979T>C	XP_005255182.1:p.Tyr1327His
XM_006720848.2:c.4135T>C	XP_006720911.1:p.Tyr1379His
XM_011522380.1:c.4342T>C	XP_011520682.1:p.Tyr1448His
XM_011522381.1:c.3643T>C	XP_011520683.1:p.Tyr1215His
XM_005255124.4:c.4351T>C	XP_005255181.1:p.Tyr1451His
XM_005255125.4:c.3979T>C	XP_005255182.1:p.Tyr1327His
XM_006720848.3:c.4135T>C	XP_006720911.1:p.Tyr1379His
XM_011522381.2:c.3643T>C	XP_011520683.1:p.Tyr1215His
XM_017022944.1:c.4390T>C	XP_016878433.1:p.Tyr1464His
NM_004380.3:c.4396T>C MANE Select	NP_004371.2:p.Tyr1466His